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Kimberley Billingsley

London Calling 2023: Population-scale nanopore sequencing to further understand the genetics of Alzheimer's disease and related dementias

Previous large-scale genetic sequencing efforts for Alzheimer's disease and related dementias have been  performed using short-read sequencing, which is not optimized to identify structural variation or repeat  expansions. While long-read sequencing technologies substantially overcome this limitation, they have  previously not been considered as a feasible replacement at scale due to being too expensive, not scalable  enough, or too error-prone. We developed an efficient and scalable wet lab and computational pipeline for  nanopore long-read sequencing. We applied our pipeline to ~300 human brain samples from the North  American Brain Expression cohort and demonstrate that this data can be used to phase small and  structural variants at megabase scales, better resolve disease-relevant haplotypes, and produce highly  accurate haplotype-specific methylation calls. As part of the NIH Center for Alzheimer’s and Related  Dementias (CARD) long-read sequencing initiative, we are currently applying this framework to thousands  of human brain samples to generate a new long-read resource for the wider research community.